MIR6800

microRNA 6800, the group of MicroRNAs

Basic information

Region (hg38): 19:49832018-49832099

Links

ENSG00000284114 ∙ NCBI:102465480 ∙ ∙ HGNC:50042 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIR6800 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6800 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MIR6800

This is a list of pathogenic ClinVar variants found in the MIR6800 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-49832019-C-G		Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 30, 2021)
19-49832022-G-A		Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 04, 2023)
19-49832029-A-G		Charcot-Marie-Tooth disease type 2	Uncertain significance (Apr 12, 2022)
19-49832033-T-C		Charcot-Marie-Tooth disease type 2	Likely benign (Dec 07, 2023)
19-49832034-CAG-C		Charcot-Marie-Tooth disease type 2	Likely benign (Nov 09, 2022)
19-49832040-C-T		Charcot-Marie-Tooth disease type 2	Likely benign (Oct 10, 2023)
19-49832040-CG-C		Charcot-Marie-Tooth disease type 2	Benign (Jul 07, 2023)
19-49832041-G-A		Charcot-Marie-Tooth disease type 2	Likely benign (May 07, 2023)
19-49832041-G-C		Charcot-Marie-Tooth disease type 2	Likely benign (Jul 11, 2022)
19-49832080-T-C		Charcot-Marie-Tooth disease type 2	Likely benign (Sep 03, 2022)
19-49832081-C-T		Charcot-Marie-Tooth disease type 2	Likely benign (Dec 07, 2022)
19-49832082-TC-T		Charcot-Marie-Tooth disease • Charcot-Marie-Tooth disease type 2	Likely benign (Feb 09, 2022)
19-49832091-C-T		Charcot-Marie-Tooth disease type 2	Likely benign (Jun 11, 2023)
19-49832092-G-A		Charcot-Marie-Tooth disease type 2	Likely benign (Aug 17, 2023)
19-49832092-G-T		Charcot-Marie-Tooth disease type 2	Likely benign (Jul 31, 2017)
19-49832092-GC-G		Charcot-Marie-Tooth disease type 2	Benign (Sep 02, 2022)
19-49832097-C-T		Charcot-Marie-Tooth disease type 2	Uncertain significance (Nov 25, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP